Overview
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion is an extremely rare genetic condition caused by a tiny missing piece of chromosome 5 in the region called 5q31.3. This syndrome is sometimes referred to as 5q31.3 microdeletion syndrome. Babies with this condition are typically affected from birth, showing severe low muscle tone (hypotonia), meaning their muscles are very floppy and weak. They also develop seizures early in life and have encephalopathy, which means the brain does not function normally. This leads to significant developmental delays and intellectual disability. The deleted region on chromosome 5 contains genes that are important for normal brain development and function. Key genes in this region include PURA and sometimes neighboring genes. Children with this syndrome often have difficulty feeding, may need tube feeding, and show little or no speech development. Many also have distinctive facial features and breathing difficulties. There is currently no cure for this condition. Treatment focuses on managing symptoms, including anti-seizure medications to control epilepsy, physical therapy to address low muscle tone, and supportive care such as feeding assistance. The severity of the condition can vary somewhat depending on the exact size of the deletion and which genes are affected, but most children require lifelong intensive support and medical care.
Key symptoms:
Severe low muscle tone (floppiness) from birthSeizures starting in the newborn periodBrain dysfunction (encephalopathy)Severe intellectual disabilityLittle or no speech developmentFeeding difficulties requiring tube feedingBreathing problemsDistinctive facial featuresDelayed or absent motor milestonesPoor head controlAbnormal movementsVision problemsConstipation and gastrointestinal issuesSleep disturbances
Clinical phenotype terms (37)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact size of my child's deletion, and which genes are affected?,What seizure medications are best suited for my child, and what are the side effects?,What therapies (physical, occupational, speech) should we start, and how often?,Does my child need a feeding tube, and what type is recommended?,What is the chance of this happening again in a future pregnancy?,Are there any clinical trials or research studies my child could participate in?,What emergency plan should we have in place for prolonged seizures or breathing problems?
Common questions about Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
What is Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion?
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion is an extremely rare genetic condition caused by a tiny missing piece of chromosome 5 in the region called 5q31.3. This syndrome is sometimes referred to as 5q31.3 microdeletion syndrome. Babies with this condition are typically affected from birth, showing severe low muscle tone (hypotonia), meaning their muscles are very floppy and weak. They also develop seizures early in life and have encephalopathy, which means the brain does not function normally. This leads to significant developmental delays and inte
How is Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion inherited?
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion typically begin?
Typical onset of Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion is neonatal. Age of onset can vary across affected individuals.